AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr:
OMIM Id: 616050
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0002829) Arthralgia 79 / 7739
2
 (HPO:0001744) Splenomegaly 337 / 7739
3
 (HPO:0004387) Enterocolitis 7 / 7739
4
 (HPO:0004322) Short stature 1232 / 7739
5
 (HPO:0001508) Failure to thrive 454 / 7739
6
 (HPO:0001876) Pancytopenia 89 / 7739
7
 (HPO:0005521) Disseminated intravascular coagulation 5 / 7739
8
 (HPO:0003281) Increased serum ferritin 32 / 7739
9
 (HPO:0001945) Fever 218 / 7739
10
 (HPO:0003326) Myalgia 143 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: